Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants

C. Fusco, G. Nardella, A. Petracca, D. Ronchi, N. Paciello, M. Di Giacomo, S. Gambardella, S. Lanfranconi, S. Zampatti, L. D'Agruma, L. Micale, M. Castori

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)829-835
Number of pages7
JournalClinical Genetics
Issue number6
Publication statusPublished - 2021


  • cerebral cavernous malformations
  • KRIT1
  • mRNA analysis
  • PDCD10
  • splicing

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